Associated Papers
Seizure evolution in a mouse model of West syndrome involves complex and time-dependent synapse remodeling, gliosis and alterations in lipid metabolism.
Ma R et al.
Plos Biology, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST2
Impact of Genetic Variants Associated with Neurodevelopmental Disorders on the WAVE Regulatory Complex.
Xie S et al.
Journal of Chemical Information and Modeling, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
Recent advances in CYFIP2-associated neurodevelopmental disorders: From human genetics to molecular mechanisms and mouse models.
Ma R et al.
Brain & Development, 2025
The WAVE complex in developmental and adulthood brain disorders.
Kim HG et al.
Experimental & Molecular Medicine, 2025
Molecular basis of the CYFIP2 and NCKAP1 autism-linked variants in the WAVE regulatory complex.
Xie S et al.
Protein Science : a Publication of the Protein Society, 2025
Common characteristics of variants linked to autism spectrum disorder in the WAVE regulatory complex.
Xie S et al.
Frontiers in Computational Neuroscience, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
Salokivi T et al.
American Journal of Medical Genetics. Part A, 2024
Identification of CYFIP2 Arg87Cys Ligands via In Silico and In Vitro Approaches.
Venturi Biembengut Í et al.
Biomedicines, 2024
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B et al.
Epilepsia Open, 2023
Generation of an induced pluripotent stem cell line from a patient with epileptic encephalopathy caused by the CYFIP2 R87C variant.
Silva ILZ et al.
Human Cell, 2023
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.
Grether A et al.
Molecular Genetics & Genomic Medicine, 2023
Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case Description.
Da Silva Cardoso J et al.
Cureus, 2023
CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2.
Kang M et al.
Annals of Neurology, 2023
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